hrp0097rfc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023
Napoli Flavia
, Cerbone Manuela
, Guftar Shaik M
, Buonocore Federica
, Angelelli Alessia
, Fava Daniela
, Tuli Gerdi
, Pistorio Angela
, T Dattani Mehul
, Maghnie Mohamad
Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...